A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13211281



Internal ID3213097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61453750..61594908hg38UCSC Ensembl
chr8:62366309..62507467hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38141159
hg19141159
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617389
Supporting Variants
SamplesNA20906
Known GenesASPH, CLVS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13211281
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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